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1 to 25 of 217  Show
  1. 1
    "Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism."
    Andersson S., Berman D.M., Jenkins E.P., Russell D.W.
    Nature 354:159-161(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  2. 2
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  3. 3
    Schupp I.
    Submitted (APR-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-89.
    Category: Sequences.
    Tissue: Liver tumor.
    Source: UniProtKB/Swiss-Prot (reviewed).
  4. 4
    NIEHS SNPs program
    Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-49; LEU-89 AND VAL-113.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  5. 5
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12924 other entries.

  6. 6
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  7. 7
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-89.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50492 other entries.

  8. 8
    "Transcription of type II 5 alpha-reductase is up-regulated by SRY in human dermal papilla cells."
    Nakanishi J., Hibino T.
    Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-67.
    Category: Sequences.
    Tissue: Placenta.
    Source: UniProtKB/Swiss-Prot (reviewed).
  9. 9
    Cited for: VARIANT PPSH TRP-246.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  10. 10
    "A new deletion of the 5-alpha-reductase type 2 gene in a Turkish family with 5-alpha-reductase deficiency."
    Boudon C., Lobaccaro J.-M., Lumbroso S., Ogur G., Ocal G., Belon C., Sultan C.
    Clin. Endocrinol. (Oxf.) 43:183-188(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH MET-157 DEL.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  11. 11
    Cited for: VARIANTS PPSH ASP-115; SER-183 AND TRP-246.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  12. 12
    "Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5-alpha-reductase 2 deficiency."
    Hochberg Z., Chayen R., Reiss N., Falik Z., Makler A., Munichor M., Farkas A., Goldfarb H., Ohana N., Hiort O.
    J. Clin. Endocrinol. Metab. 81:2821-2827(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH GLN-55.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  13. 13
    "Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2)."
    Anwar R., Gilbey S.G., New J.P., Markham A.F.
    Mol. Pathol. 50:51-52(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH LYS-200.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  14. 14
    "Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations."
    Nordenskjold A., Magnus O., Aagenaes O., Knudtzon J.
    Am. J. Med. Genet. 80:269-272(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPSH THR-228.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  15. 15
    "Molecular characterization of 5-alpha-reductase type 2 deficiency and fertility in a Swedish family."
    Nordenskjold A., Ivarsson S.-A.
    J. Clin. Endocrinol. Metab. 83:3236-3238(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH SER-196 AND ARG-231.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  16. 16
    "Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA."
    Makridakis N.M., Ross R.K., Pike M.C., Crocitto L.E., Kolonel L.N., Pearce C.L., Henderson B.E., Reichardt J.K.V.
    Lancet 354:975-978(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-49, POLYMORPHISM.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  17. 17
    "Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency."
    Vilchis F., Mendez J.P., Canto P., Lieberman E., Chavez B.
    Clin. Endocrinol. (Oxf.) 52:383-387(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ASP-85; ASP-115; ARG-212; TYR-245 AND GLN-246.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  18. 18
    "Uniparental disomy in steroid 5-alpha-reductase 2 deficiency."
    Chavez B., Valdez E., Vilchis F.
    J. Clin. Endocrinol. Metab. 85:3147-3150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ASP-197 AND ARG-212.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  19. 19
    "Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II."
    Makridakis N.M., di Salle E., Reichardt J.K.
    Pharmacogenetics 10:407-413(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-5; LEU-30; ARG-48; THR-49; THR-51; LEU-89; MET-187; LEU-194; GLN-227 AND LEU-234, FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES.
    Category: Function, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  20. 20
    "Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study."
    Pearce C.L., Makridakis N.M., Ross R.K., Pike M.C., Kolonel L.N., Henderson B.E., Reichardt J.K.V.
    Cancer Epidemiol. Biomarkers Prev. 11:417-418(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEU-89.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  21. 21
    "Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients."
    Sasaki G., Ogata T., Ishii T., Kosaki K., Sato S., Homma K., Takahashi T., Hasegawa T., Matsuo N.
    J. Clin. Endocrinol. Metab. 88:3431-3436(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MICROPENIS GLN-227, VARIANT LEU-89.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  22. 22
    "Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2."
    Loukola A., Chadha M., Penn S.G., Rank D., Conti D.V., Thompson D., Cicek M., Love B., Bivolarevic V., Yang Q., Jiang Y., Hanzel D.K., Dains K., Paris P.L., Casey G., Witte J.S.
    Eur. J. Hum. Genet. 12:321-332(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-49, LACK OF ASSOCIATION WITH PROSTATE CANCER.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  23. 23
    "Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene."
    Fernandez-Cancio M., Rodo J., Andaluz P., Martinez de Osaba M.J., Rodriguez-Hierro F., Esteban C., Carrascosa A., Audi L.
    Horm. Res. 62:259-264(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ASP-115 AND TRP-246.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  24. 24
    "SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects."
    Nicoletti A., Baldazzi L., Balsamo A., Barp L., Pirazzoli P., Gennari M., Radetti G., Cacciari E., Cicognani A.
    Clin. Endocrinol. (Oxf.) 63:375-380(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH TRP-145; LEU-181; SER-196; PHE-235 AND GLN-246, VARIANTS THR-49 AND LEU-89.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  25. 25
    "New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2."
    Hackel C., Oliveira L.E., Ferraz L.F., Tonini M.M., Silva D.N., Toralles M.B., Stuchi-Perez E.G., Guerra-Junior G.
    J. Mol. Med. 83:569-576(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PPSH ARG-126; ARG-158; SER-183; SER-196; ASP-207 AND TRP-246, VARIANTS THR-49 AND LEU-89.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
1 to 25 of 217  Show